Table 2

Polymerase chain reaction primers and restriction digest fragment sizes used to screen the congenital and age related cataract populations for the four known Cx50 mutations

MutationRestriction sitePrimers (sense/antisense)Wild type (bp)Mutant (bp)
R23TLoss of HINf1F5′-cccgcgttagcaaaaacagat-3′ and R5′-cacagaggccacagacaacat-3′574, 132, 27706, 27
P88SCreates Mnl1F5′-tctgggtgctgcagatcatc-3′ R5′-ccatgcggacgtagtgcac-3′8150, 31
E48KLoss of FokIF5′-cccgcgttagcaaaaacagat-3′ R5′-ccatgcggacgtagtgcac-3′193, 172, 33193, 205
I247MLoss of HINf1F5′-cactacttcctgtacgggttc-3′ R5′-ctcttgccctacgtaagcttgg-3′610, 237847